ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.224G>C (p.Ser75Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003041018 SCV003353765 uncertain significance Transcobalamin II deficiency 2022-05-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 75 of the TCN2 protein (p.Ser75Thr). This variant has not been reported in the literature in individuals affected with TCN2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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